Pfeiffer syndrome: a clinical review

Area of Science:

• Genetics and Developmental Biology
• Pediatric Surgery
• Craniofacial Surgery

Background:

• Pfeiffer syndrome classically involves bicoronal craniosynostosis, broad thumbs/great toes, and syndactyly, typically with a benign course.
• A subset of patients exhibits more severe craniofacial and associated manifestations, posing a significant risk of early mortality.
• Understanding these distinct clinical presentations is crucial for appropriate management.

Purpose of the Study:

• To identify and characterize a subgroup of Pfeiffer syndrome patients with severe manifestations.
• To evaluate the impact of early aggressive surgical management on survival and outcomes in this subgroup.
• To highlight the importance of early diagnosis and intervention for severe Pfeiffer syndrome cases.

Main Methods:

• Retrospective review of clinical features in Pfeiffer syndrome patients presenting to the unit.
• Analysis of craniofacial and associated anomalies, including severity and progression.
• Assessment of outcomes following early aggressive surgical interventions for craniostenosis, hydrocephalus, exorbitism, faciostenosis, and airway obstruction.

Main Results:

• Confirmation of a subgroup with extreme craniofacial and associated manifestations.
• Identification of a significant risk of early demise in this severe subgroup.
• Demonstration that early aggressive surgical management can lead to prolonged useful survival.

Conclusions:

• Pfeiffer syndrome exhibits significant clinical heterogeneity, with a severe subgroup requiring specialized care.
• Early and aggressive surgical intervention is critical for improving survival and quality of life in severe cases.
• Multidisciplinary management is essential for addressing the complex craniofacial and systemic issues in Pfeiffer syndrome.